early-onset ataxia with oculomotor apraxia and hypoalbuminemia

An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene.

Signs and symptoms

• Distal amyotrophy
• Ataxia
• Impaired distal vibration sensation
• Distal sensory impairment
• Areflexia
• Oculomotor apraxia
• Chorea
• Loss of ambulation
• Hypercholesterolemia
• Elevated circulating creatine kinase activity

Also known as: ataxia with oculomotor apraxia type 1